Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.E17K

AHSP

49 papers

RefSeq Summary

This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been tran...

Pfam Domains

AHSPaa 5–91UCSCAlpha-haemoglobin stabilising protein

Gene Aliases

HGNC Name

alpha hemoglobin stabilizing protein

HGNC Previous Symbol

ERAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016633.4
p.E17K
c.49G>A
Surrounding Variants
1 paper
NM_016633.4
p.L15F
c.45G>C
1 paper
NM_016633.4
p.L15F
c.45G>T
1 paper
NM_016633.4
p.A13P
c.37G>C
1 paper
NM_016633.4
p.I11L
c.31A>C
1 paper
NM_016633.4
p.L10L
c.30C>T
2 papers
NM_016633.4
p.Q25K
c.73C>A
1 paper
NM_016633.4
p.D29A
c.86A>C
4 papers
NM_016633.4
p.D29V
c.86A>T
9 papers
NM_016633.4
p.P30A
c.88C>G
1 paper
NM_016633.4
p.V32I
c.94G>A
1 paper
NM_016633.4
p.V38V
c.114G>A
1 paper
NM_016633.4
p.T39N
c.116C>A
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